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	121.	Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. [electronic resource] by Papadopoulos, Constantinos Orlikowski, David Prigent, Hélène Lacour, Arnaud Tard, Céline Furby, Alain Praline, Julien Solé, Guilhem Hogrel, Jean-Yves De Antonio, Marie Semplicini, Claudio Deibener-Kaminsky, Joelle Kaminsky, Pierre Eymard, Bruno Taouagh, Nadjib Perniconi, Barbara Hamroun, Dalil Laforêt, Pascal Producer: 20180518 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	No effect of triheptanoin on exercise performance in McArdle disease. [electronic resource] by Madsen, Karen L Laforêt, Pascal Buch, Astrid E Stemmerik, Mads G Ottolenghi, Chris Hatem, Stéphane N Raaschou-Pedersen, Daniel T Poulsen, Nanna S Atencio, Maria Luton, Marie-Pierre Ceccaldi, Alexandre Haller, Ronald G Quinlivan, Ros Mochel, Fanny Vissing, John Producer: 20200907 In: Annals of clinical and translational neurology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. [electronic resource] by Claeys, Kristl G van der Ven, Peter F M Behin, Anthony Stojkovic, Tanya Eymard, Bruno Dubourg, Odile Laforêt, Pascal Faulkner, Georgine Richard, Pascale Vicart, Patrick Romero, Norma B Stoltenburg, Gisela Udd, Bjarne Fardeau, Michel Voit, Thomas Fürst, Dieter O Producer: 20090422 In: Acta neuropathologica vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. [electronic resource] by Sentner, Christiaan P Hoogeveen, Irene J Weinstein, David A Santer, René Murphy, Elaine McKiernan, Patrick J Steuerwald, Ulrike Beauchamp, Nicholas J Taybert, Joanna Laforêt, Pascal Petit, François M Hubert, Aurélie Labrune, Philippe Smit, G Peter A Derks, Terry G J Producer: 20171206 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. [electronic resource] by Stojkovic, Tanya Hammouda, El Hadi Richard, Pascale López de Munain, Adolfo Ruiz-Martinez, Javier Camaño, Pilar Gonzalez, Pilar Camaño Laforêt, Pascal Pénisson-Besnier, Isabelle Ferrer, Xavier Lacour, Arnaud Lacomblez, Lucette Claeys, Kristl G Maurage, Claude-Alain Fardeau, Michel Eymard, Bruno Producer: 20090728 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy. [electronic resource] by Querin, Giorgia Lenglet, Timothée Debs, Rabab Stojkovic, Tanya Behin, Anthony Salachas, François Le Forestier, Nadine Amador, Maria Del Mar Lacomblez, Lucette Meininger, Vincent Bruneteau, Gaelle Laforêt, Pascal Blancho, Sophie Marchand-Pauvert, Véronique Bede, Peter Hogrel, Jean-Yves Pradat, Pierre-François Producer: 20190911 In: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity. [electronic resource] by Tchikviladzé, Maya Gilleron, Mylène Maisonobe, Thierry Galanaud, Damien Laforêt, Pascal Durr, Alexandra Eymard, Bruno Mochel, Fanny Ogier, Hélène Béhin, Anthony Stojkovic, Tanya Degos, Bertrand Gourfinkel-An, Isabelle Sedel, Frederic Anheim, Mathieu Elbaz, Alexis Viala, Karine Vidailhet, Marie Brice, Alexis Jardel, Claude Lombès, Anne Producer: 20150720 In: Journal of neurology, neurosurgery, and psychiatry vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. [electronic resource] by Wahbi, Karim Porcher, Raphaël Laforêt, Pascal Fayssoil, Abdallah Bécane, Henri Marc Lazarus, Arnaud Sochala, Maximilien Stojkovic, Tanya Béhin, Anthony Leonard-Louis, Sarah Arnaud, Pauline Furling, Denis Probst, Vincent Babuty, Dominique Pellieux, Sybille Clementy, Nicolas Bassez, Guillaume Péréon, Yann Eymard, Bruno Duboc, Denis Producer: 20190924 In: JAMA neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood. [electronic resource] by Fayssoil, Abdallah Chaffaut, Cendrine Ogna, Adam Stojkovic, Tanya Lamothe, Laure Mompoint, Dominique Meng, Paris Prigent, Helene Clair, Bernard Behin, Anthony Laforet, Pascal Bassez, Guillaume Carlier, Robert Orlikowski, David Amthor, Helge Quijano Roy, Susana Crenn, Pascal Chevret, Sylvie Eymard, Bruno Lofaso, Frederic Annane, Djillali Producer: 20200102 In: Journal of neuromuscular diseases vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1. [electronic resource] by Wahbi, Karim Babuty, Dominique Probst, Vincent Wissocque, Ludivine Labombarda, Fabien Porcher, Raphaël Bécane, Henri Marc Lazarus, Arnaud Béhin, Anthony Laforêt, Pascal Stojkovic, Tanya Clementy, Nicolas Dussauge, Aurélie Pattier Gourraud, Jean Baptiste Pereon, Yann Lacour, Arnaud Chapon, Françoise Milliez, Paul Klug, Didier Eymard, Bruno Duboc, Denis Producer: 20180611 In: European heart journal vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. [electronic resource] by Böhm, Johann Chevessier, Frédéric Maues De Paula, André Koch, Catherine Attarian, Shahram Feger, Claire Hantaï, Daniel Laforêt, Pascal Ghorab, Karima Vallat, Jean-Michel Fardeau, Michel Figarella-Branger, Dominique Pouget, Jean Romero, Norma B Koch, Marc Ebel, Claudine Levy, Nicolas Krahn, Martin Eymard, Bruno Bartoli, Marc Laporte, Jocelyn Producer: 20130404 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms. [electronic resource] by Marey, Isabelle Ben Yaou, Rabah Deburgrave, Nathalie Vasson, Aurélie Nectoux, Juliette Leturcq, France Eymard, Bruno Laforet, Pascal Behin, Anthony Stojkovic, Tanya Mayer, Michèle Tiffreau, Vincent Desguerre, Isabelle Boyer, François Constant Nadaj-Pakleza, Aleksandra Ferrer, Xavier Wahbi, Karim Becane, Henri-Marc Claustres, Mireille Chelly, Jamel Cossee, Mireille Producer: 20180315 In: Journal of neuromuscular diseases vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy. [electronic resource] by Mohassel, Payam Landon-Cardinal, Océane Foley, A Reghan Donkervoort, Sandra Pak, Katherine S Wahl, Colleen Shebert, Robert T Harper, Amy Fequiere, Pierre Meriggioli, Matthew Toro, Camilo Drachman, Daniel Allenbach, Yves Benveniste, Olivier Béhin, Anthony Eymard, Bruno Lafôret, Pascal Stojkovic, Tanya Mammen, Andrew L Bönnemann, Carsten G Producer: 20200226 In: Neurology(R) neuroimmunology & neuroinflammation vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	Muscle MRI findings in limb girdle muscular dystrophy type 2L. [electronic resource] by Sarkozy, Anna Deschauer, Marcus Carlier, Robert-Yves Schrank, Bertold Seeger, Jürgen Walter, Maggie C Schoser, Benedikt Reilich, Peter Leturq, France Radunovic, Aleksandar Behin, Anthony Laforet, Pascal Eymard, Bruno Schreiber, Herbert Hicks, Debbie Vaidya, Sujit S Gläser, Dieter Carlier, Pierre G Bushby, Kate Lochmüller, Hanns Straub, Volker Producer: 20130227 In: Neuromuscular disorders : NMD vol. 22 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Risk of developing a mitochondrial DNA deletion disorder. [electronic resource] by Chinnery, Patrick F DiMauro, Salvatore Shanske, Sara Schon, Eric A Zeviani, Massimo Mariotti, Caterina Carrara, Fanco Lombes, Anne Laforet, Pascal Ogier, Helène Jaksch, Michaela Lochmüller, Hanns Horvath, Rita Deschauer, Marcus Thorburn, David R Bindoff, Laurence A Poulton, Joanna Taylor, Robert W Matthews, John N S Turnbull, Douglass M Producer: 20040830 In: Lancet (London, England) vol. 364 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression. [electronic resource] by Vidal, Patrice Pagliarani, Serena Colella, Pasqualina Costa Verdera, Helena Jauze, Louisa Gjorgjieva, Monika Puzzo, Francesco Marmier, Solenne Collaud, Fanny Simon Sola, Marcelo Charles, Severine Lucchiari, Sabrina van Wittenberghe, Laetitia Vignaud, Alban Gjata, Bernard Richard, Isabelle Laforet, Pascal Malfatti, Edoardo Mithieux, Gilles Rajas, Fabienne Comi, Giacomo Pietro Ronzitti, Giuseppe Mingozzi, Federico Producer: 20190315 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Clinical heterogeneity and phenotype/genotype findings in 5 families with [electronic resource] by Ben Yaou, Rabah Hubert, Aurélie Nelson, Isabelle Dahlqvist, Julia R Gaist, David Streichenberger, Nathalie Beuvin, Maud Krahn, Martin Petiot, Philippe Parisot, Frédéric Michel, Fabrice Malfatti, Edoardo Romero, Norma Carlier, Robert Yves Eymard, Bruno Labrune, Philippe Duno, Morten Krag, Thomas Cerino, Mathieu Bartoli, Marc Bonne, Gisèle Vissing, John Laforet, Pascal Petit, François M Publication details: Neurology. Genetics Dec 2017 In: Neurology. Genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Analysis of the DYSF mutational spectrum in a large cohort of patients. [electronic resource] by Krahn, Martin Béroud, Christophe Labelle, Véronique Nguyen, Karine Bernard, Rafaëlle Bassez, Guillaume Figarella-Branger, Dominique Fernandez, Carla Bouvenot, Julien Richard, Isabelle Ollagnon-Roman, Elisabeth Bevilacqua, Jorge A Salvo, Eric Attarian, Shahram Chapon, Françoise Pellissier, Jean-François Pouget, Jean Hammouda, El Hadi Laforêt, Pascal Urtizberea, Jon Andoni Eymard, Bruno Leturcq, France Lévy, Nicolas Producer: 20090410 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. [electronic resource] by Malfatti, Edoardo Olivé, Montse Taratuto, Ana Lía Richard, Pascale Brochier, Guy Bitoun, Marc Gueneau, Lucie Laforêt, Pascal Stojkovic, Tanya Maisonobe, Thierry Monges, Soledad Lubieniecki, Fabiana Vasquez, Gabriel Streichenberger, Nathalie Lacène, Emmanuelle Saccoliti, Maria Prudhon, Bernard Alexianu, Marilena Figarella-Branger, Dominique Schessl, Joachim Bonnemann, Carsten Eymard, Bruno Fardeau, Michel Bonne, Gisèle Romero, Norma Beatriz Producer: 20131021 In: Journal of neuropathology and experimental neurology vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). [electronic resource] by Barp, Andrea Laforet, Pascal Bello, Luca Tasca, Giorgio Vissing, John Monforte, Mauro Ricci, Enzo Choumert, Ariane Stojkovic, Tanya Malfatti, Edoardo Pegoraro, Elena Semplicini, Claudio Stramare, Roberto Scheidegger, Olivier Haberlova, Jana Straub, Volker Marini-Bettolo, Chiara Løkken, Nicoline Diaz-Manera, Jordi Urtizberea, Jon A Mercuri, Eugenio Kynčl, Martin Walter, Maggie C Carlier, Robert Y Producer: 20201022 In: Journal of neurology vol. 267 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 161 results.